Varaico: Literature-Extracted Genetic Variants

Gene:GDF5
Variant:p.L176P

GDF5

218 papers

RefSeq Summary

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activat...

Pfam Domains

TGFb_propeptideaa 144–345UCSCTGF-beta propeptide
TGF_betaaa 399–500UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

growth differentiation factor 5

HGNC Alias Symbols

CDMP1; BMP14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_000557.5
p.L176P
c.527T>C
Surrounding Variants
2 papers
NM_000557.5
p.L176delFs
c.527delA
2 papers
NM_000557.5
p.L176fs
c.526_527fs
9 papers
NM_000557.5
p.M173V
c.517A>G
1 paper
NM_000557.5
p.I167fs
c.499_500fs
1 paper
NM_000557.5
p.I167fs
c.499_500fs
4 papers
NM_000557.5
p.P166_I167insFs
c.498_499insC
4 papers
NM_000557.5
p.P165delFs
c.493delG
1 paper
NM_000557.5
p.G188D
c.563G>A
1 paper
NM_000557.5
p.R163C
c.487C>T
1 paper
NM_000557.5
p.K159K
c.477G>A
1 paper
NM_000557.5
p.P158S
c.472C>T
1 paper
NM_000557.5
p.P155_E157delFs
c.465_471del7
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."